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Rates of Parkinson’s disease are exploding. A common chemical may be to blame

Thursday, April 8, 2021

Asked about the future of Parkinson’s disease in the US, Dr Ray Dorsey says, “We’re on the tip of a very, very large iceberg.”

Dorsey, a neurologist at the University of Rochester Medical Center and author of Ending Parkinson’s Disease, believes a Parkinson’s epidemic is on the horizon. Parkinson’s is already the fastest-growing neurological disorder in the world; in the US, the number of people with Parkinson’s has increased 35% the last 10 years, says Dorsey, and “We think over the next 25 years it will double again.”

Most cases of Parkinson’s disease are considered idiopathic – they lack a clear cause. Yet researchers increasingly believe that one factor is environmental exposure to trichloroethylene (TCE), a chemical compound used in industrial degreasing, dry-cleaning and household products such as some shoe polishes and carpet cleaners.

Read More: Rates of Parkinson’s disease are exploding. A common chemical may be to blame

Clinical trials are moving out of the lab and into people’s homes

Thursday, February 18, 2021

After the pandemic forced thousands of trials to shut down, researchers found clever ways to conduct human studies remotely — while reaching more people, quickly and cheaply.

Remote trials are likely to persist in a post-pandemic era, researchers say. Cutting back on in-person visits could make recruiting patients easier and reduce dropout rates, leading to quicker, cheaper clinical trials, said Dr. Ray Dorsey, a neurologist at the University of Rochester who conducted remote research for years.

In fact, he noted, enrollment in one of his current virtual studies, which is tracking people with a genetic predisposition to Parkinson’s, actually surged last spring. “While most clinical studies were paused or delayed, ours accelerated in the midst of the pandemic,” he said.

Read More: Clinical trials are moving out of the lab and into people’s homes

New Research Sheds Light on Vision Loss in Batten Disease

Friday, February 5, 2021

eyeProgressive vision loss, and eventually blindness, are the hallmarks of juvenile neuronal ceroid lipofuscinosis (JNCL) or CLN3-Batten disease.  New research shows how the mutation associated with the disease could potentially lead to degeneration of light sensing photoreceptor cells in the retina, and subsequent vision loss.

 “The prominence and early onset of retinal degeneration in JNCL makes it likely that cellular processes that are compromised in JNCL are critical for health and function of the retina,” said Ruchira Singh, Ph.D., an associate professor in the Department of Ophthalmology and Center for Visual Science and lead author of the study which appears in the journal Communications Biology. “It is important to understand how vision loss is triggered in this disease, what is primary and what is secondary, and this will allow us to develop new therapeutic strategies.”

Batten disease is caused by a mutation in the CLN3 gene, which is found on chromosome 16.  Most children suffering from JNCL have a missing part in the gene which inhibits the production of certain proteins.  Rapidly progressive vision loss can start in children as young as 4, who eventually go on to develop learning and behavior problems, slow cognitive decline, seizures, and loss of motor control.  Most patients with the disease die between the ages of 15 and 30.

It has been well established that vision loss in JNCL is due to degeneration of the light-sensing tissue in the retina. The vision loss associated with JNCL can precede other neurological symptoms by many years in some instances, which often leads to patients being misdiagnosed with other more common retinal degenerations. However, one of the barriers to studying vision loss in Batten disease is that mouse models of CLN3 gene mutation do not produce the retinal degeneration or vision loss found in humans.  Additionally, examination of eye tissue after death reveals extensive degeneration of retinal cells which does not allow researchers to understand the precise mechanisms that lead to vision loss.

URMC is a hub for Batten disease research.  The Medical Center is home to the University of Rochester Batten Center (URBC), one of the nation’s premier centers dedicated to the study and treatment of this condition. The URBC is led by pediatric neurologist Jonathan Mink, M.D., Ph.D., who is a co-author of the study.  Batten disease is also one of the key research projects that will be undertaken by the National Institute of Child Health and Human Development-supported University of Rochester Intellectual and Development Diseases Research Center

To study Batten disease in patient’s own cells, the research team reengineered skin cells from patients and unaffected family members to create human-induced pluripotent stem cells.  These cells, in turn, were used to create retinal cells which possessed the CLN3 mutation. Using this new human cell model of the disease, the new study shows for the first time that proper function of CLN3 is necessary for retinal pigment epithelium cell structure, the cell layer in the retina that nourishes light sensing photoreceptor cells in the retina and is critical for their survival and function and thereby vision.

Singh points out that understanding how RPE cell dysfunction contributes to photoreceptor cell loss in Batten disease is important first step, and it will enable researchers to target specific cell type in the eye using potential future gene therapies, cell transplantation, and drug-based interventions.

Additional co-authors of the study include Cynthia Tang, Jimin Han, Sonal Dalvi, Kannan Marian, Lauren Winschel, Celia Soto, Chad Galloway, Whitney Spencer, Michael Roll, Lisa Latchney, Erika Augustine, Vamsi Gullapalli, and Mina Chung with URMC, David Williams and Stephanie Volland with the University of California, Los Angeles, Vera Boniha with the Cleveland Clinic, and Tyler Johnson with Sanford Research.  The research was supported with funding from the National Eye Institute BrightFocus Foundation, the David Bryant Trust, the Foundation of Fighting Blindness, the Knights Templar Eye Foundation, the Retina Research Foundation, and Research to Prevent Blindness.

Read More: New Research Sheds Light on Vision Loss in Batten Disease

Ann Leonhardt Caprio elected as a Fellow of the AHA

Saturday, January 2, 2021

We are pleased to announce that Ann Leonhardt Caprio, DNP, RN, ANP-BC, UR Comprehensive Stroke Center Program Coordinator, has recently been named as a Fellow of the American Heart Association (FAHA), Council of Cardiovascular and Stroke Nursing. Highly competitive, election as a FAHA recognizes the recipient’s scientific accomplishments, volunteer leadership and service.  Earning the FAHA credential demonstrates to colleagues and patients that the recipient has been welcomed into one of the world’s most eminent organizations of cardiovascular and stroke professionals.

Fellowship recognizes leaders within the AHA who have made significant contributions to the field of cardiovascular and cerebrovascular science and medicine. FAHA demonstrate outstanding credentials and achievement, contribute to the AHA through involvement at the local, affiliate, and/or national level, and receive a strong recommendation from leaders in their field.